Article
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.
American journal of human genetics - 1 Sept 1997
Pulkkinen L, Bullrich F, Czarnecki P, Weiss L, Uitto J
Abstract excerpt
Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder characterized by blister formation at the level of the lamina lucida within the cutaneous basement-membrane zone. Classic lethal JEB (Herlitz type [H-JEB]; OMIM 226700) is frequently associated with premature-termination-codon mutations in both alleles of one of the three genes (LAMA3, LAMC2, or LAMB3) encoding the subunit polypeptides...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.